Results 41 to 50 of about 2,048 (238)
A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly. [PDF]
Nakano Y+5 more
europepmc +2 more sources
Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis. [PDF]
Pasumarthi D+5 more
europepmc +2 more sources
Reverse frontal lifting: alternative for the treatment of pachydermoperiostosis [PDF]
Introduction: Patient diagnosed with pachydermoperiostosis, presenting a strong cutaneous manifestation, making it impossible to correct the defect by the usual facial lifting techniques.
Amanda Figueira Bussade+4 more
core +2 more sources
The many symptoms of pachydermoperiostosis
A 26-year-old black man with a 3-year history of persistent joint pain and swelling of the wrists and ankles and enlargement of his hands and feet, also reported ‘deformity’ of his fingernails (clubbing) since childhood. His father had similar symptoms, but no siblings were affected.
Bilal Abdool-Gafoor
openaire +6 more sources
Endocrine alterations in patients with pachydermoperiostosis
CONTEXT Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) usually due to biallelic loss-of-function variants in HPGD and SLCO2A1, has some features overlapping with acromegaly and often referred to endocrinologists.
Maria Stelmachowska‐Banaś+21 more
openalex +2 more sources
Pachydermoperiostosis complicated by recurrent hypokalemia: A rare case report
Pachydermoperiostosis (PDP) is a genetic condition involving cutaneous and osseous tissues, characterized by pachydermia, digital clubbing, and periostosis. Though primarily associated with dermatological and osteoarticular symptoms, PDP has occasionally
Sarmini Varatharajan+3 more
openalex +2 more sources
A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids
Pachydermoperiostosis (PDP) is a multisystem disorder of mesenchymal origin. It is a form of hypertrophic osteoarthropathy. The typical clinical features include pachydermia, cutis verticus gyrata, digital clubbing, and periostosis. Patients present with
Bipasha Mukherjee, Md. Shahid Alam
doaj +2 more sources
Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis [PDF]
Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism.
Dan Wu+8 more
core +3 more sources